Bale SJ - Search Results

1

Transglutaminase-1 gene mutations in autosomal recessive congenital ichthyosis: summary of mutations (including 23 novel) and modeling of TGase-1.

Herman ML, Farasat S, Steinbach PJ, Wei MH, Toure O, Fleckman P, Blake P, Bale SJ, Toro JR. Herman ML, et al. Among authors: bale sj. Hum Mutat. 2009 Apr;30(4):537-47. doi: 10.1002/humu.20952. Hum Mutat. 2009. PMID: 19241467 Free PMC article. Review.

2

Novel transglutaminase-1 mutations and genotype-phenotype investigations of 104 patients with autosomal recessive congenital ichthyosis in the USA.

Farasat S, Wei MH, Herman M, Liewehr DJ, Steinberg SM, Bale SJ, Fleckman P, Toro JR. Farasat S, et al. Among authors: bale sj. J Med Genet. 2009 Feb;46(2):103-11. doi: 10.1136/jmg.2008.060905. Epub 2008 Oct 23. J Med Genet. 2009. PMID: 18948357 Free PMC article.

3

Splice-site mutation in TGM1 in congenital recessive ichthyosis in American families: molecular, genetic, genealogic, and clinical studies.

Shevchenko YO, Compton JG, Toro JR, DiGiovanna JJ, Bale SJ. Shevchenko YO, et al. Among authors: bale sj. Hum Genet. 2000 May;106(5):492-9. doi: 10.1007/s004390000284. Hum Genet. 2000. PMID: 10914678

4

Kuskokwim syndrome, a recessive congenital contracture disorder, extends the phenotype of FKBP10 mutations.

Barnes AM, Duncan G, Weis M, Paton W, Cabral WA, Mertz EL, Makareeva E, Gambello MJ, Lacbawan FL, Leikin S, Fertala A, Eyre DR, Bale SJ, Marini JC. Barnes AM, et al. Among authors: bale sj. Hum Mutat. 2013 Sep;34(9):1279-88. doi: 10.1002/humu.22362. Epub 2013 Jul 8. Hum Mutat. 2013. PMID: 23712425 Free PMC article.

5

Genetic basis of Darier-White disease: bad pumps cause bumps.

Bale SJ, Toro JR. Bale SJ, et al. J Cutan Med Surg. 2000 Apr;4(2):103-6. doi: 10.1177/120347540000400212. J Cutan Med Surg. 2000. PMID: 11179934

6

Mutation of a new gene causes a unique form of Hermansky-Pudlak syndrome in a genetic isolate of central Puerto Rico.

Anikster Y, Huizing M, White J, Shevchenko YO, Fitzpatrick DL, Touchman JW, Compton JG, Bale SJ, Swank RT, Gahl WA, Toro JR. Anikster Y, et al. Among authors: bale sj. Nat Genet. 2001 Aug;28(4):376-80. doi: 10.1038/ng576. Nat Genet. 2001. PMID: 11455388

7

Loss-of-function mutations in the gene encoding filaggrin cause ichthyosis vulgaris.

Smith FJ, Irvine AD, Terron-Kwiatkowski A, Sandilands A, Campbell LE, Zhao Y, Liao H, Evans AT, Goudie DR, Lewis-Jones S, Arseculeratne G, Munro CS, Sergeant A, O'Regan G, Bale SJ, Compton JG, DiGiovanna JJ, Presland RB, Fleckman P, McLean WH. Smith FJ, et al. Among authors: bale sj. Nat Genet. 2006 Mar;38(3):337-42. doi: 10.1038/ng1743. Epub 2006 Jan 29. Nat Genet. 2006. PMID: 16444271

8

Mutations in the gene for transglutaminase 1 in autosomal recessive lamellar ichthyosis.

Russell LJ, DiGiovanna JJ, Rogers GR, Steinert PM, Hashem N, Compton JG, Bale SJ. Russell LJ, et al. Among authors: bale sj. Nat Genet. 1995 Mar;9(3):279-83. doi: 10.1038/ng0395-279. Nat Genet. 1995. PMID: 7773290

9

Mapping of the associated phenotype of an absent granular layer in ichthyosis vulgaris to the epidermal differentiation complex on chromosome 1.

Compton JG, DiGiovanna JJ, Johnston KA, Fleckman P, Bale SJ. Compton JG, et al. Among authors: bale sj. Exp Dermatol. 2002 Dec;11(6):518-26. doi: 10.1034/j.1600-0625.2002.110604.x. Exp Dermatol. 2002. PMID: 12473059

10

Exclusion of PTEN, CTNNB1, and PTCH as candidate genes for Birt-Hogg-Dube syndrome.

Toro JR, Shevchenko YO, Compton JG, Bale SJ. Toro JR, et al. Among authors: bale sj. J Med Genet. 2002 Feb;39(2):E10. doi: 10.1136/jmg.39.2.e10. J Med Genet. 2002. PMID: 11836379 Free PMC article. No abstract available.

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